IR@PKUHSC  > 北京大学第一临床医学院  > 皮肤性病科
学科主题临床医学
Frequency and features of TP53 mutation in 30 Chinese patients with sporadic basal cell carcinoma
Wang, Y. M.1,2; Huang, Y. S.3; Ma, Z. H.4; Bu, D. F.5; Wang, Y.1,2; Tu, P.2; Li, H.1,2
刊名CLINICAL AND EXPERIMENTAL DERMATOLOGY
2014-10-01
DOI10.1111/ced.12411
39期:7页:829-834
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Dermatology
研究领域[WOS]Dermatology
关键词[WOS]SKIN-CANCER ; P53 GENE ; SIGNATURE ; PTCH
英文摘要

BackgroundBasal cell carcinoma (BCC) is a prevalent form of nonmelanoma skin cancer. Although numerous studies in white populations suggest that mutations in the TP53 gene play an important role in the development of BCC, it is not clear whether this is also the case in East Asian populations such as in China.

AimTo investigate the frequency and the features of TP53 mutation in sporadic BCC in a Chinese population.

MethodsIn total, 30 patients with sporadic BCC, who had previously taken part in a study on PTCH1 mutations, were enrolled. BCC and control cells were obtained by laser-capture microdissection, and DNA was amplified and sequenced for analysis of TP53 mutations.

ResultsIn the 30 BCC samples, 6 TP53 point mutations were found (frequency of 20%), and 4 of these 6 mutations had ultraviolet (UV)-specific alterations. Combining these results with those of the previous study on PTCH1 mutations, we found that two patients with had three types of genetic alterations (each had two PTCH1 mutations and one TP53 point mutation). A further two patients each had one PTCH1 mutation and one UV signatureTP53 mutation. In addition, the total number of UV-specific mutations of PTCH1 and TP53 accounted for 20% of the total patient group.

ConclusionsThe incidence of TP53 mutation in BCC in our Chinese subjects was lower than that reported for white populations. Many of the patients carried mutations of other genes in addition to of TP53. The majority of TP53 mutations were UV-induced specific alterations. However, the results of the two studies on TP53 and PTCH1 indicated that the incidence of UV-specific mutations is much lower in Chinese than in white populations.

语种英语
WOS记录号WOS:000342162800012
资助机构Specialized Research Fund for the Doctoral Program of Higher Education of China
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被引频次:1[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/65979
专题北京大学第一临床医学院_皮肤性病科
作者单位1.Peking Univ First Hosp, Dept Dermatol, Beijing, Peoples R China
2.Beijing Key Lab Mol Diag Dermatoses, Beijing, Peoples R China
3.Univ British Columbia, Dept Dermatol & Skin Sci, Vancouver, BC V5Z 1M9, Canada
4.Peking Univ First Hosp, Cent Lab, Beijing, Peoples R China
5.Mudanjiang Med Univ Hongqi Hosp, Dept Dermatol, Mudanjiang, Heilongjiang, Peoples R China
推荐引用方式
GB/T 7714
Wang, Y. M.,Huang, Y. S.,Ma, Z. H.,et al. Frequency and features of TP53 mutation in 30 Chinese patients with sporadic basal cell carcinoma[J]. CLINICAL AND EXPERIMENTAL DERMATOLOGY,2014,39(7):829-834.
APA Wang, Y. M..,Huang, Y. S..,Ma, Z. H..,Bu, D. F..,Wang, Y..,...&Li, H..(2014).Frequency and features of TP53 mutation in 30 Chinese patients with sporadic basal cell carcinoma.CLINICAL AND EXPERIMENTAL DERMATOLOGY,39(7),829-834.
MLA Wang, Y. M.,et al."Frequency and features of TP53 mutation in 30 Chinese patients with sporadic basal cell carcinoma".CLINICAL AND EXPERIMENTAL DERMATOLOGY 39.7(2014):829-834.
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